Wednesday, September 28, 2011

I have had many people tell me that you have to take this trip day to day, even hour to hour. That is so true. You really have to stay living in the exact moment because thoughts of the future or the past both can be too emotionally daunting. This morning I had to go through my photos on Facebook one by one to make sure that they were all set to "Friends" after a friend told me that they were showing up publicly. I did not make it through all of the albums before sitting at my desk crying over photos of Liviana from last year. It did not help that I had an emotional song playing on my computer from a slideshow I had just uploaded for a client. I never know when those moments will hit. If I talk about her to others I feel a lump in my throat, making the clothing shift for fall for the kids was unexpectedly and overwhelmingly emotional, seeing old photos and videos is such a mixture of joy and sadness. I would give my arms and legs to see her run into the room.

To update from my post a month ago...We did not go to Italy for Giovanni's follow up at the end of August. I contacted them and let them know that there was no possible way I would be able to leave Liviana for 2 weeks. It took some time to get them to understand our situation from a real life perspective and not a clinical perspective. Anything could happen to Livi in 2 weeks and as her primary caregiver my absence would have been detrimental to her. Giovanni was not receiving any treatment and rather, had to have another MRI, blood work, bone marrow aspirate, EEG, EKG, Chest x-ray, hearing and vision tests and several other assessments. Given that we live in a pretty medically progressive city, I was confident the tests could be performed here. In the end, they agreed to send two doctors here to collect his blood work and bone marrow and perform his motor skill evaluation. Because the samples are sensitive and had to be tested soon after collection they left within a few hours of his test, to return back to Milan. It was really nice to see Laura (pediatrician) and Francesca (neurologist) again but only on our turf this time. They were really happy to see Giovanni and we had them over one of the evenings to see the other kids, especially Liviana. They thought Omaha was so beautiful. Yes, everyone...it really is compared to the areas they are used to living and where we lived. It is green and lush and they added in "so quiet". They have already told me they will plan to come back for his February follow up if necessary and they will plan to be here longer so we can show them Nebraska. We all warned them that Nebraska is February may be a little chilly and snowy and given that they think 50 degrees is freezing, they may be in for a shock. I am so, so grateful beyond words that they were able to come here instead of Giovanni and I going back there for two weeks.

I was really hesitant going into G's MRI. There is not any clinical or research evidence that anesthesia can speed up the progression of the disease but there is quite a bit of anecdotal evidence from parents who know their children and have seen just that happen. I spoke with this doctor and the anesthesiologist about the issue. Both agreed there is no clinical evidence on the issue with pre-symptomatic children but that there are certain anesthesias they know to avoid with myelin degeneration issues. He was under anesthesia for 2.5 hours for a detailed MRI, blood draws (25 vials) and bone marrow aspirate. When he came out he was a child possessed. He screamed psychotically for about an hour. He was clawing at me, trying to jump from my arms, freaking out about anything touching him...he was absolutely hysterical. They decided he it was from the Versed that was given to him as a pre-med before going in. The screaming episode further worried me because I know that such upset has an impact on the brain as well. For two days after the MRI he sounded like a 600lb. man with emphysema...I am assuming the combination of the breathing tube irritation and screaming caused it all.

Dr. R contacted me about a week later with his MRI results. He showed very slight change from his February MRI to his May MRI and again on the August MRI. That is the downside. The upside is that he showed some slight improvement on the MRI's metabolic readings of Choline from his May to August MRI. They still don't know enough about how the MRI metabolic readings relate to MLD but I will take whatever we can get. They will expect to see the change on MRI before clinical manifestations of demyelination begins. They also would not expect his treatment to "work" at this point, as the new cells don't get to where they need to be in the brain until about a year post treatment. During this in between time, he has the cell presence in his peripheral blood but it has yet to fully cross the blood-brain barrier and integrate there, as it needs to. To say it is nerve wracking is a massive understatement.

I have been feeling literally sick to my stomach as I have seen some things in Giovanni, just in the last 3 weeks that are some of the early things I saw in Liviana. At the time with Livi I never would have thought they would lead to such a devastating diagnosis...I chalked them up to being odd, but not a sign of something so serious. Now, knowing what I know and seeing the same things in Giovanni....well, it leaves me 150% terrified. Just 2 weeks ago I got him up from nap and brought him down to his seat for some yogurt. Within 10 minutes of eating the yogurt he was in a full body shiver from head to toe. Liviana, early on showed temperature regulation issues and I am now seeing those in Giovanni, although I do believe this is earlier than I saw it in Liviana. His balance and walking is getting more unsteady as well. Just since the doctors from Italy were here in August he is more unsteady. He loses his balance more easily and is falling more than he was just a few weeks ago. This too is earlier than we saw this in Livi. I hate to speculate that it is all related to the anesthesia and testing but can't help but see that it falls in line so soon after the testing. He is night waking and seems uncomfortable which Livi did also. He scratches at phantom things and seems bothered by his feet, or his head when we don't see anything there.

All of this is unfathomable to me. I see this little boy who is hilarious, adorable, rambunctious. It is hard to look at him knowing what I know is happening to him. We do not know how and if the treatment will work. It is a challenge for me mentally to deal with that reality each day. I am eternally hopeful and optimistic but sometimes fear that optimism will bite me in the rear (or "tushy" as Aria would want me to say). I love him so much and hate that I am so helpless now and can only stand by and wait. I do pump him full of B12, magnesium, Omega-3's, etc. but I really don't know what is happening in his brain and how fast it will take over his little body like it did Liviana's.

Onto sweet, angelic Liviana. I can't get enough of her. I am seriously addicted to her smell, the way she melts in my arms when I hold her. Right now I sleep with her at night. About mid August she started night waking regularly. It seemed to usually be either a reflux issue (which seems almost gone), muscle spasms or just unknown discomfort. She can't roll over by herself anymore and sometimes will get over to far on her side and go onto her stomach too much and be unable to move. It scares me to death. MLD scares me to death. It seems so unpredictable. The mornings that she does sleep later than me I will obsessively creep up the stairs every 5 minutes to check on her because I fear her ending up on her stomach, unable to get her breath, a seizure, an aspiration or any other things that this horrific disease may be doing to her body. You would think that being awakened multiple times a night would be bothersome but honestly, I don't mind it at all. I LOVE cradling her in my arms and feeling her breath instantly calm, her body soften and her nuzzle her head into my neck as close as she can get. It is the exact same feeling you get when your newborn snuggles into you and immediately calms. I am so often reminded of the very first time I was finally able to hold her at 14 days old after fearing we would lose her. It is the exact same peace that comes over me as it did that day. I wonder if she has any idea that she is giving me as much peace and calm as I hope I am giving to her. This last week she is sleeping better, although we have had a couple of nights with horrible spasms. They get so bad I have to hold her arms because she hits herself in the face, unable to control her arm movements. I am working hard to get the right medication balance for her so she is comfortable 24 hours a day and does not have to endure that at all. It is a struggle because I don't think the doctor's office understands the necessary dosing for an MLD child. The recommended dose is really much too low for her and does not provide her with much comfort at all. Anyone who knows me knows that I am very conservative when it comes to medication so my goal is to keep her comfortable and relaxed but NOT sleeping. That dose is going to change as the disease progresses. I work with natural treatments in her feeds to help her also. I rub Magnesium oil on her and have been trying to find other things to help...it all feels like a crap shoot at times. What is working, what isn't...I will keep trying.

The balance of life since school started has been challenging. It is hard on Livi to get her in and out of the car multiple times a day. I have noticed on days we go places and her body is moved into different positions that she seems more uncomfortable those evenings. With Aria and Miles in school it would mean getting her in and out of the car 6 times a day. As a result of keeping things easier on her Brad usually takes the kids to school and picks them up (Miles is out at 11:25 each day). I have told him we need to try to split who gets to pick them up and take them because I feel like I am missing out on their lives outside of the home. Aria and Miles are both playing soccer, which is really exciting but I have missed one of each of their games so far. I would never choose to miss one of their games. I want to be there cheering them on each day. The first time I missed Aria's game it was a cold rainy morning and Liviana was sick and we did not want to get her out. The second time, she was having a rough Sunday and had finally fallen asleep on me when it was time to get ready for Mile's game. Just like I want to be there for each game, I want Liviana to be a part of all we do too. It doesn't seem like an option to me to leave her home with a sitter while we go to a soccer game. It is a difficult situation and one that I know we will continue to face. We are trying to squeeze a not normal family situation into a normal family life. A challenge indeed.

Liviana did get sick a couple of weeks ago. Aria brought home a runny nose from school. Both her and Giovanni had a little runny nose for a few days. Miles, of course never gets sick...he has an iron immune system. Livi however faced greater challenges when it passed to her. Because of her MLD she has a hard time clearing the congestion herself. I worried so much about it going to pneumonia. She sounded terrible and was having a hard time breathing at night. I was able to get a suction machine, at the urging of other MLD parents, from home health. That seemed to help her although the suction tube is too large for her and the correct size is on back order. She kicked the colds tushy :) in about 5 days with no impacted lung issues. She is so stinking STRONG. She already is at more risk for lung related issues because of her CDH and she makes it through with unscathed....she will always amaze me.

A wonderful, amazing woman from high school, Danielle Kuhn Holtzman sent the girls the CUTEST matching outfits. I was excited to take Aria and Liviana out for photos recently and how off their love and cuteness. The outfits are from HERE...they are so cute and much appreciated! Here are a few of the photos:

As I have said before, Aria just ADORES Liviana. I will see her sitting holding her hand on the couch. They all give her hugs and kisses before they go to bed (G is always kissing her) and she gets the biggest smile on her face. Miles is protective of her like you would expect from a big brother. They all make me so proud for the amazing little people they are despite so many emotional challenges in their young lives.

A few people have asked where the kids are going to school since they are not at OLL this year. Our kids are selectively vaccinated and the school chose to not accept them as students this year. It was a challenge finding that out 18 days before school started but we found them a new school that welcomed us and seems to be a great fit for the kids. They are very happy although they do miss their friends. The OLL community was so supportive and important to us from the time of diagnosis in November and during our time in Italy. We would never want the people there to think we chose to leave the school, as it was a very important place for us in challenging times.

I have also had people ask about the Wells Fargo account. There is still an account in the name of Liviana Price Donation Account. The original account had the fraud charge cleared in July (as we fully expected) and I closed it right away. The new account had been open for a while and works the same way.

I wanted to thank Cindy Maughan for the gift of a Vitamix blender so I could make Liviana's feeds. It is an absolutely amazing machine and I cannot even explain how much easier it made my life and how much money I save on her food using it. You are one of my heros Cindy. You are a beautiful, strong, amazing woman and the spirit in your shines through in your children. I also wanted to thank Kathleen Scott, Katherine Elizabeth, Michelle Gwin and the Hunter's Hope Foundation. They all came together to get a bath seat to Liviana that had previously belonged to other Leukodystrophy angels. It meant so much to me and Liviana. I requested a bath seat for Liviana from OT back on July 28th and she still does not have one from them. Anyone who thinks that the insurance issue when you have children with special needs is easy is kidding themselves. Getting things you need takes an insane amount of time and each day that passes by you lose a little bit of your child. Your choice is to either buy it yourself or network with other parents to get what your child needs. It is those parents I have to thank for helping Liviana be more comfortable and have what she needs.

I have been waiting on her OT/PT scheduling for well over a month as well. I will not get started on that now. The one scheduling I was contacted for was for the Speech Pathologist to come out and "help her on her speech". Once again...a little research into her diagnosis before calling would save me having to say, "she can't talk anymore and won't ever again, thank you". I didn't request SP services for her anyway. Ok...moving on.

This next update is one I have debated back and forth about sharing. Having less presence with blogging is because I am really not comfortable with the public-ness of our situation. At the same time, we have met some AMAZING, kind, caring, loving people and THOSE are the people we want to share our lives with and those are the people we have to thank for so much love and support when we needed it. I realized that it would be better to share the information now, than a sudden update later. So....our "coming out" :)

Thank you to Jennifer Pinkerton for the gorgeous photo!

We are expecting...I am actually 37 weeks along. We found out VERY unexpectedly 2 weeks into Giovanni's treatment. I will be the woman heckling from the back of the room of any Natural Family Planning or basic biology class. I swear I defy all "rules" of conception. Despite everything going on and enormous fears, we found ourselves happy to be expecting...it seemed like a bright spot in what had been such an emotionally difficult couple of months (and upcoming months). The pregnancy caused a roller coaster during G's treatment with them telling me I could not be with him....me refusing to not be with him (because of infection risk to him being perceived risk to baby), them telling me I could not continue breastfeeding him....me refusing to stop breastfeeding him and then the lovely, food aversions seeing the same, green trays of food come in each day (I shudder thinking about it). I am VERY lucky to have amazingly easy pregnancies. I don't have morning sickness and except for some hypoglycemic issues I pretty much breeze through as if I were not pregnant.

We of course, instantly worried about MLD. The doctors brushed that off as a non-concern and said I should be more concerned because I had chemotherapy exposure through Giovanni. The OB I finally saw there said that was a non-issue because exposure was too indirect (that is what my research found) and it was too early. This baby has a 25% chance of having MLD. A fact that is on my mind every single hour of every single day. I knew the moment I saw the positive test that it was a girl, and I was right :). To say they were persistent in testing prenatally for MLD is an understatment. I was also extremely dismayed to be told more than once that I could terminate and that "if parents "here" learned the child had MLD would terminate". It broke my heart. I went through the "termination" conversations from wayward doctors when pregnant with Liviana. I look at these beautiful, amazing children, regardless of their genetic disorders and can't imagine such a thing. What would our lives be without Liviana and Giovanni? So, needless to say, we did not test prenatally for MLD. This baby is a gift...a plan from someone else...a plan we will let unfold naturally.

I did ask our doctor here for the probability of having 3 children in a row with MLD and the percentage is 1.2%. I cling to that percentage even though he reiterated that the percentage is for each child which would be 25%...I still cling to it. The doctors in Italy told me that having 3 children in a row "goes against the rules of biology". While that brought me immediate comfort...the fact that I got pregnant when I did to begin with is a bit against those same rules.

The kids are VERY excited. When in Italy and Liviana was still talking she told me she wanted a girl. I cannot wait to see what joy this little one will bring her. I expect to cry often after her arrival seeing my beautiful children together and the different paths they have each taken us down. Aria and Miles talk about her arrival often and really cannot wait. Aria felt her for the first time last night and the look on her face was so precious. She is already bonding with her little sister.

We will test for MLD in November when the doctors from Italy are here for some blood draws for Giovanni. We will likely end up finding out around the same time we found out confirmation that Liviana and Giovanni had MLD. Let us hope and pray the news will be different. I can't even wrap my head around the news being any other than "she is MLD free".

As if we could keep things calm and simple around here...we are moving also. When we moved her last September, before MLD became part of our world our rent was priced right for us. I was working constantly with my business and Brad was working non-stop on harvest. It all worked out well. In late November everything changed and then changed more dramatically on December 22nd. 3 weeks later we were on a plane for Italy, leaving our jobs, for nearly 6 months. I appreciated those who suggested we live somewhere cheaper but uh...we were out of the country. Moving while we weren't even here was not logical. Our landlord tried to get us to stay here but he could not go as low as we wanted to pay. He tried to find other properties of his for us, but none of them were a good fit for us. In the end, Brad found a home 1 block from the school (which will allow a stroller ride to get the kiddos for Livi, rather than being loaded in the car). The home was newly bought by the owner and needed a TON (understatement) of work so Brad has been working tirelessly day and night to get it ready and done so we can move in before the baby arrives. He knows I need to nest and given that this little one will be born at home, just as Giovanni was...the nest is quite important. At this point, we hope to move around the 7th. I will be 38 weeks pregnant. They completely tore out an upstairs bathroom, expanded bedroom walls, replaced bathroom, redid floors, walls, put in new heating, air and electrical, tiled the kitchen, painted, etc, etc, etc. Bless his sweet heart for working so hard for us.

In addition to all of this I have many sessions coming up and a wedding I am photographing on Saturday. Yes, a 10 hour wedding day at 37 weeks pregnant. Piece of Cake...I am serious :).

So, is this update long enough. Goodness and I just thought of a few more things I could share....next time.

Thank you from the bottom of my heart to those who are standing by us through this roller coaster of a journey. It is hard, it hurts to our core, it is joyful, emotional, spiritual, loving, learning and growing.

Hug Your Babies!

PS...if there is anyone out there who fancies themselves a painter Brad could sure use the help to get the house done :).

I'm sure I could think of a million things to say, but overall I just want to say Congratulations on Baby #5! I hope that this baby girl is MLD free, though regardless it is obvious she will be loved and cherished! Take care of those babies of yours and I look forward to hearing more when baby arrives, I feel like I know you though we have never even met:)

Oh Amy! I wish you could have seen the grin on my face when I read your PPS. :) I've deactivated my FB account for various reasons, and I am so grateful that you are here updating and that I am privileged to keep up with your journey. CONGRATULATIONS on your pregnancy! What an incredible blessing. I can't wait to see your new little one. Many blessings and all my love and good wishes are with you.

Anything I say is not enough. Your family has changed mine in ways that are indescribable, and your babies are breathtaking. I cannot get over how simply gorgeous they are, how simply amazing you are, and I feel so lucky to know you all, even if it is just through a computer screen--it feels like so much more.

We are also expecting. :) I'm just past 12 weeks and grateful to be (I hope!) feeling consistently better. We are incredibly excited and look forward to the future.

I can't begin to tell you how much your story inspires me. I read your updates at work and end up balling my head off. It's like a rollercoaster ride of emotions imagining what it must be like for you on a daily basis and wondering how I would handle it if it were my children to sharing in your little joys of a child's smile to the anticipation of welcoming a beautiful new baby to the clan. You truly are amazing - I can't think of a better word for it. I can only wish to help in some little way to make you and your babies' lives better.

GREAT pictures of the girls (and you Amy!)...those smiles...what a gift your sweet girl is giving you all!! We will pray and pray that you can figure out the right 'cocktail' as we call it for Mac for Liviana...the right mix of things to keep her comfortable but not sedated. It was a long road for us finding the right mix of things. MLD is so unfair and hard.

You guys do such a wonderful job balancing a 'not' so normal life with your normal life stuff...when I stay home with Mac and miss some of Colin's things...I always think in my head that 'mld won that one' - but it is necessary for Mac's comfort and that is all that matters.

Can't wait to see pics of the new baby...sending lots of love and prayers your way always! Hope the move goes well...too bad we live in MD painting is something I do to distract myself from life sometimes - I could have helped with the new digs!! (-:

Have you considered out patient stem cell transplant (parent's cells used) that Duke University is doing with children whose symptoms have already manifested, as Liviana's has? The Evanofsky boys, the older ones, just recently had this done as they were not eligible for the full transplant that the youngest brother underwent prior to symptoms showing.

I saw your newest blog post today; but somehow missed this one! I ADORE the pictures of your sweet girls... thank you so much for sharing them here. They are both so beautiful... both inside and out. I can see Aria's love for her little sister through the images. LIke I said, PRECIOUS!

I can't imagine how you are doing all that you are doing... new baby, moving, caring for Livi, worrying about Giovanni. It is more than most humans could handle. I have no words of wisdom... I just wanted to let you know that I will be praying for you and your sweet family more fervently through this holiday season; knowing it must be excruciatingly difficult. I know you consider yourself an ordinary person doing what any mother would do if faced with your own set of circumstances, but I want you to know that you do inspire me. Your obvious love for your children, courage to stand up to the doctors who spoke of termination, and dedication to your entire family IS inspiring. It just simply is.

Thank you again for sharing the beautiful photos... the made me smile!